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Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1.
Mouro Pinto R, Arning L, Giordano JV, Razghandi P, Andrew MA, Gillis T, Correia K, Mysore JS, Grote Urtubey DM, Parwez CR, von Hein SM, Clark HB, Nguyen HP, Förster E, Beller A, Jayadaev S, Keene CD, Bird TD, Lucente D, Vonsattel JP, Orr H, Saft C, Petrasch-Parwez E, Wheeler VC. Mouro Pinto R, et al. Among authors: petrasch parwez e. Hum Mol Genet. 2020 Aug 29;29(15):2551-2567. doi: 10.1093/hmg/ddaa139. Hum Mol Genet. 2020. PMID: 32761094 Free PMC article.
Neurodegeneration and motor dysfunction in a conditional model of Parkinson's disease.
Nuber S, Petrasch-Parwez E, Winner B, Winkler J, von Hörsten S, Schmidt T, Boy J, Kuhn M, Nguyen HP, Teismann P, Schulz JB, Neumann M, Pichler BJ, Reischl G, Holzmann C, Schmitt I, Bornemann A, Kuhn W, Zimmermann F, Servadio A, Riess O. Nuber S, et al. J Neurosci. 2008 Mar 5;28(10):2471-84. doi: 10.1523/JNEUROSCI.3040-07.2008. J Neurosci. 2008. PMID: 18322092 Free PMC article.
Olfactory neuron-specific expression of A30P α-synuclein exacerbates dopamine deficiency and hyperactivity in a novel conditional model of early Parkinson's disease stages.
Nuber S, Petrasch-Parwez E, Arias-Carrión O, Koch L, Kohl Z, Schneider J, Calaminus C, Dermietzel R, Samarina A, Boy J, Nguyen HP, Teismann P, Velavan TP, Kahle PJ, von Hörsten S, Fendt M, Krüger R, Riess O. Nuber S, et al. Neurobiol Dis. 2011 Nov;44(2):192-204. doi: 10.1016/j.nbd.2011.06.017. Epub 2011 Jul 5. Neurobiol Dis. 2011. PMID: 21767644
Selective hippocampal neurodegeneration in transgenic mice expressing small amounts of truncated Aβ is induced by pyroglutamate-Aβ formation.
Alexandru A, Jagla W, Graubner S, Becker A, Bäuscher C, Kohlmann S, Sedlmeier R, Raber KA, Cynis H, Rönicke R, Reymann KG, Petrasch-Parwez E, Hartlage-Rübsamen M, Waniek A, Rossner S, Schilling S, Osmand AP, Demuth HU, von Hörsten S. Alexandru A, et al. J Neurosci. 2011 Sep 7;31(36):12790-801. doi: 10.1523/JNEUROSCI.1794-11.2011. J Neurosci. 2011. PMID: 21900558 Free PMC article.
First appraisal of brain pathology owing to A30P mutant alpha-synuclein.
Seidel K, Schöls L, Nuber S, Petrasch-Parwez E, Gierga K, Wszolek Z, Dickson D, Gai WP, Bornemann A, Riess O, Rami A, Den Dunnen WF, Deller T, Rüb U, Krüger R. Seidel K, et al. Ann Neurol. 2010 May;67(5):684-9. doi: 10.1002/ana.21966. Ann Neurol. 2010. PMID: 20437567
Ccdc66 null mutation causes retinal degeneration and dysfunction.
Gerding WM, Schreiber S, Schulte-Middelmann T, de Castro Marques A, Atorf J, Akkad DA, Dekomien G, Kremers J, Dermietzel R, Gal A, Rülicke T, Ibrahim S, Epplen JT, Petrasch-Parwez E. Gerding WM, et al. Hum Mol Genet. 2011 Sep 15;20(18):3620-31. doi: 10.1093/hmg/ddr282. Epub 2011 Jun 16. Hum Mol Genet. 2011. PMID: 21680557
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